SE-ATLAS

Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type I Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Leukocyte adhesion deficiency type III PAPA syndrome X-linked immunoneurologic disorder T-cell immunodeficiency with thymic aplasia Autoinflammatory syndrome with immune deficiency Infantile inflammatory bowel disease with neurological involvement Roifman syndrome Combined immunodeficiency-enteropathy spectrum Myeloperoxidase deficiency Familial hemophagocytic lymphohistiocytosis X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Common variable immunodeficiency Pancytopenia due to IKZF1 mutations Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Combined immunodeficiency due to OX40 deficiency X-linked agammaglobulinemia Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Primary immunodeficiency with predisposition to severe viral infection Aicardi-Goutières syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Inflammatory bowel disease-recurrent sinopulmonary infections syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 22q11.2 deletion syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections DITRA Dianzani autoimmune lymphoproliferative disease Syndromic multisystem autoimmune disease due to Itch deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Hermansky-Pudlak syndrome type 9 Hennekam syndrome Syndromic diarrhea Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Primary immunodeficiency Cernunnos-XLF deficiency Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Immunoglobulin heavy chain deficiency Chédiak-Higashi syndrome Autoimmune lymphoproliferative syndrome B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Severe congenital neutropenia Combined immunodeficiency due to DOCK2 deficiency NLRP3-associated autoinflammatory disease Activated PI3K-delta syndrome Epidermodysplasia verruciformis Chronic mucocutaneous candidiasis Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Isolated agammaglobulinemia DNA repair defect other than combined T-cell and B-cell immunodeficiencies Immuno-osseous dysplasia CANDLE syndrome Barth syndrome Bloom syndrome Susceptibility to respiratory infections associated with CD8alpha chain mutation CHARGE syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Idiopathic CD4 lymphocytopenia Cherubism Cohen syndrome Dyskeratosis congenita Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Griscelli syndrome type 2 ICF syndrome Hyper-IgM syndrome type 2 X-linked hyper-IgM syndrome Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 5 Hoyeraal-Hreidarsson syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Hyperimmunoglobulinemia D with periodic fever Hyper-IgM syndrome with susceptibility to opportunistic infections Chronic granulomatous disease Hermansky-Pudlak syndrome due to AP-3 deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Autosomal agammaglobulinemia Syndromic agammaglobulinemia FADD-related immunodeficiency Agammaglobulinemia Autoimmune polyendocrinopathy type 1 Absent thumb-short stature-immunodeficiency syndrome Herpes simplex virus encephalitis Genetic susceptibility to infections due to particular pathogens CINCA syndrome Familial hyperinflammatory lymphoproliferative immunodeficiency Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Hereditary folate malabsorption Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome BENTA disease Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency Familial isolated congenital asplenia Alopecia antibody deficiency Primary CD59 deficiency Hyper-IgM syndrome without susceptibility to opportunistic infections Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Hyper-IgE syndrome Selective IgM deficiency Hypohidrotic ectodermal dysplasia with immunodeficiency Pyogenic autoinflammatory syndrome Autosomal recessive severe congenital neutropenia Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Immunodeficiency by defective expression of MHC class II Immune dysregulation with inflammatory bowel disease Muckle-Wells syndrome Complement component 3 deficiency Monocytopenia with susceptibility to infections Severe combined immunodeficiency due to LCK deficiency Reticular dysgenesis Immunodeficiency due to a complement regulatory deficiency Combined immunodeficiency due to CARMIL2 deficiency Immunodeficiency due to a complement cascade component deficiency Combined immunodeficiency due to LRBA deficiency Quantitative and/or qualitative congenital phagocyte defect Constitutional neutropenia Primary immunodeficiency due to a defect in innate immunity Combined immunodeficiency due to CD3gamma deficiency Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Netherton syndrome Nijmegen breakage syndrome-like disorder Cyclic neutropenia Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Combined immunodeficiency due to CRAC channel dysfunction Omenn syndrome Neutropenia-monocytopenia-deafness syndrome Neonatal inflammatory skin and bowel disease Severe combined immunodeficiency due to FOXN1 deficiency Nijmegen breakage syndrome Combined immunodeficiency due to MALT1 deficiency Immunodeficiency due to CD25 deficiency Severe combined immunodeficiency due to CORO1A deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Papillon-Lefèvre syndrome Cartilage-hair hypoplasia Recurrent infection due to specific granule deficiency Immunodeficiency due to a classical component pathway complement deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome Pearson syndrome Immunodeficiency due to a late component of complement deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Combined immunodeficiency due to Moesin deficiency Osteopetrosis-hypogammaglobulinemia syndrome Severe combined immunodeficiency due to CTPS1 deficiency Immunodeficiency with factor I anomaly Combined immunodeficiency due to partial RAG1 deficiency NIK deficiency Purine nucleoside phosphorylase deficiency Combined immunodeficiency with granulomatosis X-linked severe congenital neutropenia T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Hepatic veno-occlusive disease-immunodeficiency syndrome Combined immunodeficiency due to RELA haploinsufficiency Immunodeficiency by defective expression of MHC class I Non-severe combined immunodeficiency Schimke immuno-osseous dysplasia Constitutional mismatch repair deficiency syndrome Combined immunodeficiency due to DOCK8 deficiency Laron syndrome with immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity PLCG2-associated antibody deficiency and immune dysregulation Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to CD70 deficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Primary hemophagocytic lymphohistiocytosis Lichtenstein syndrome Familial Mediterranean fever RAS-associated autoimmune leukoproliferative disease Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Combined immunodeficiency due to ITK deficiency Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Combined immunodeficiency due to CARD11 deficiency Poikiloderma with neutropenia Recurrent infections associated with rare immunoglobulin isotypes deficiency Predisposition to invasive fungal disease due to CARD9 deficiency Immunodeficiency syndrome with autoimmunity X-linked lymphoproliferative disease Combined immunodeficiency due to GINS1 deficiency Combined immunodeficiency due to ZAP70 deficiency Immune dysregulation disease with immunodeficiency Properdin deficiency Leukocyte adhesion deficiency Neutrophil immunodeficiency syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome PGM3-CDG Combined immunodeficiency due to CD27 deficiency Immundefekt durch Störung der Phagozytose und Migration der Neutrophilen Neutropenie, kongenitale schwere, autosomal-rezessive, durch G6PC3-Mangel Konstitutionelle Neutropenie mit extrahämatopoetischen Manifestationen Immundefekt durch Interleukin-1-Rezeptor-assoziierten Kinase-4-Mangel Immundefekt, kombinierter schwerer, durch kompletten RAG1/2-Mangel Kombinierter Immundefekt mit fazio-okulo-skelettalen Anomalien Kombinierter Immundefekt durch TFRC-Mangel IL21-abhängige infantile chronisch-entzündliche Darmerkrankung Neutropenie, kongenitale schwere, autosomal-rezessive, durch JAGN1-Mangel LIG4-Syndrom Neutropenie, kongenitale schwere, autosomal-dominante Immun-Dysregulation-inflammatorische Darmerkrankung-Arthritis-rezidivierende Infekte-Syndrom Immundefekt mit starker Reduktion von Serum-IgG und Serum-IgA bei normalem/erhöhtem IgM-Level und normaler Anzahl B-Zellen Immundefekt, kombinierter, durch ORAI1-Mangel Immundefekt, kombinierter, durch STIM1-Mangel Immundefekt, kombinierter schwerer, durch DNA-PKcs-Mangel Kostmann-Syndrom Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz Lymphoproliferatives Syndrom Immundefekt durch Ficolin-3-Mangel Immundefekt durch MASP-2-Mangel Immundefekt durch selektiven Antipolysaccharid-Antikörper-Mangel Kälte-Urtikaria, familiäre Prädisposition zur schweren Virusinfektion durch IRF7-Defizienz Immundefekt durch fehlenden Thymus Kombinierter Immundefekt durch IL21R-Mangel Immundefekt, kombinierter schwerer, durch IKK2-Mangel Immundefekt mit Isotypen- oder Leichtketten-Mangel und normaler Anzahl B-Zellen Pulmonale Alveolarproteinose, hereditäre Form Immundefekt, kombinierter schwerer, T-B+ Immundefekt, kombinierter schwerer, T-B- Majeed-Syndrom Immundefekt-Syndrom mit Hypopigmentierung Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-Defekt Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt Suszeptibilität für Mykobakteriosen durch kompletten IL12RB1-Defekt Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt Vaskulitis durch ADA2-Mangel T- und B-Zell-Immundefekt, kombinierter Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz Suszeptibilität für Mykobakteriosen, X-chromosomal Skelettdysplasie-T-Zell-Immundefekt-Entwicklungsverzögerung-Syndrom Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt T-Zell-Mangel, TCR-alpha-beta-positiver X-chromosomale Suszeptibilität für Mykobakteriosen durch CYBB-Defekt STING-assoziierte Vaskulopathie mit Beginn in der Kindheit Transiente Hypogammaglobulinämie der Kindheit Sterile multifokale Osteomyelitis mit Periostitis und Pustulose Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom T-Zell-Immundefekt mit Epidermodysplasia verruciformis Singleton-Merten-Dysplasie Schwerer kombinierter Immundefekt durch LAT-Defizienz Suszeptibilität für Mykobakteriosen, familiäre Form Warzen-Immundefekt-Lymphödem-anogenitale Dysplasie-Syndrom Suszeptibilität für lokalisierte juvenile Periodontitis Shwachman-Diamond-Syndrom Spondyloenchondrodysplasie Transcobalamin II-Mangel Whipple-Krankheit Schwere rekurrente Infektionen mit neutrophiler Dysfunktion STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit Wiskott-Aldrich-Syndrom Suszeptibilität für Bakterieninfektion durch TLR Signalweg-Defizienz Syndrom der früh einsetzenden Autoimmunität mit Autoinflammation und Immundefizienz Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt WHIM-Syndrom Sonstiges Immundefekt-Syndrom durch Störung der adaptiven Immunität X-chromosomale retikuläre Pigmentierungsstörung Syndrome mit kombiniertem Immundefekt Vici-Syndrom Suszeptibilität für Infektionen durch TYK2-Mangel T+ B+ schwerer kombinierter Immundefekt